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601462.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Bilateral ptosis; Easy fatigability
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Sex
Male
Family History
No
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000079.4:c.440_444del
1
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
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References
Monies et al. 2017
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